I get lots of messages weekly from people all over the world who want to share their story, to either have a good ol yarn with me, which I love… or to spread awareness and with Stefania, I got both.
Stefania was born in 1992, at 30 weeks prem. Stefanias mum noticed something was wrong when she gave her little baby a feed and she started vomiting up green vomit.
Panicked, her mother rushed her to the hospital. The doctors at King Edward Memorial Hospital in Perth ran around frantically not knowing what was going on. They didn’t know how to help this little baby. But one nurse who was supposed to be on leave happened to be in the hospital that day and had claimed she had seen this before and was on the phone to a doctor from Princess Margaret Hospital who had dealt with these types of issues. The doctor rushed down and after taking one look at Stefania, the doctor sent her straight to Princess Margaret hospital for an emergency biopsy to gain some type of diagnosis.
Imagine that? your little baby being rushed with a code blue emergency call… her mother waited for her baby to come back with anxiety in her heart and when she returned the doctors had an answer and delivered the news that little Stefania had a diagnoses of Hirschsprung’s Disease.
Hirschsprung disease is a life threatening disease where the large intestine does not have nerve cells needed to expel stools normally from the body.
Stefania was the first female to be diagnosed with hirschsprung’s disease and the doctors had no idea what they were dealing with. Everything was trial and error at this point and the doctors spent most days working to help this little girl live a normal life.
By age one, the nurses and doctor’s joked around calling Stefania the hospitals’ “million dollar baby” because she had, had a million dollars worth of surgery. The first year of her life was spent basically in the hospital with countless operations.
But things got pretty shit for Stefania, pun intended…In 1997 she had major surgery on her bowels. During this surgery they used an epidural, after waking up from a 72 hour surgery that was only meant to go for 12 hours, she awoke hypersensitive and paralyzed from head to toe and had to learn how to walk again.
6 month later, she had the surgery again and the same thing happened. Feeling lost she wondered if this was her life now.
A few years later the medical professionals finally figured out that she had “spotted Segment” Hirschsprung’s disease, which is a rare form of Hirschsprung’s, “because you know Hirschsprung’s disease is not rare enough.” She laughs.
In 2000 they had no choice but to cut out all of her large intestine and some of her small intestine. She became severely incontinent and had no control over her bowels.
In 2007 after a referral to countless hospitals, there was finally a solution. There had been some testing on a new treatment and they were doing trials. 2 years later Stefania’s mum got a phone call to say that they had surgery booked over in Sydney for a Sacral nerve stimulator trial.
“June 2009 I had the wires inserted and a box that I could control. For 2 weeks I had wires hanging out of my body and had to have a sponge bath….gross I know. July 2009 I had the permanent stimulator inserted into my back. IT WORKED!!!!” She said. “It worked.”
Stefania was told she could never have children because of all the scar tissue in her stomach. But despite what doctor’s said, she fell pregnant with her first child at 17 years of age and carried her to 39 weeks.
She gave birth to her beautiful daughter Samantha. Samantha appeared as a healthy baby, passing meconium (newborn poo) and doing all things normal as newborns do. However on day 6 her little girl was lethargic and appeared to have a distended stomach. Stefania’s mum recognized the symptoms, having been through it all before and off to the hospital they went. The doctors knew straight away what they were dealing with because they were Stefanias’s doctors too. Samantha had surgery to have 30cms cut out of her large bowel. Stefania was worried the nightmare would begin for her daughter but the angels were on her side, “Samantha is on some medication to help with incontinence but overall is doing fantastically” she beams.
2013 Stefania had her second miracle, Damien, born at 36 weeks. Damien was born with chromsome ring 9 and Hirschsprung’s disease. Sadly her little boy passed away. “My little Miracle was too sick and had to grow his wings at 9 days old. But I will cherish every single bit of time I had with him.”
Stefania is now 25 and She has had 150 surgeries in her life, 80 of them being major surgery. “I will continue to have surgery.” She says.
Hirschsprung’s Disease “kills” the ganglion cells in the large intestine and in some cases it also affects the small intestine. 1 in 5000 babies are diagnosed every year. 25,000 babies a born every day in Australia alone.
There is no cure for Hirschsprung’s Disease. There is not very much awareness.
So Stefania has created a page so she can spread awareness at every chance she can get. She wants people to understand what she’s been through and know for others who are experiencing the same, they’re not alone.
She also creates FREE digital Personalized Hirschsprung’s Disease Ribbons for Families that are affected by Hirschsprung’s Disease because she needs for these individuals and their families to have hope. Knowing what she’s been through she knows they need it.
You can follow this beautiful Brave Mummas story on her Facebook page here:
Let’s help her kick its ass and raise awareness!! Thank you for sharing your beautiful life story with me.